Campion D, Flaman JM, Brice A, Hannequin D, Dubois B, Martin C, Moreau V, Charbonnier F, Didierjean O, Tardieu S, Penet C, Puel M, Pasquier F, Le Doze F, Bellis G, Clerget-Darpoux F, Agid Y, Frebourg T. Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. Human Molecular Genetics 4: 2373-2377, 1995 (PubMed ID: 8634712)

Mutations

PSEN1: (Val82Leu) (Tyr115His) (Met139Thr) (His163Arg) (Ala231Thr) (Pro264Leu) (Leu392Val) (Cys410Tyr)

ID: 3

Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, Frebourg T. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. American Journal of Human Genetics 65: 664-670, 1999 (PubMed ID: 10441572)

Mutations

APP: (Val715Met; French APP) (Val717Ile; London APP)
PSEN1: (Val82Leu) (Tyr115His) (Glu120Asp) (Met139Thr) (Met146Leu) (Thr147Ile) (His163Arg) (Trp165Cys) (Leu173Trp) (Ala231Thr) (Met233Thr) (Leu235Pro) (Pro264Leu) (Ser390Ile) (Leu392Val) (Cys410Tyr)

ID: 78

Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, Boss MA, Mayeux R, St George-Hyslop P. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology 57: 621-625, 2001 (PubMed ID: 11524469)

Mutations

PSEN1: (Arg35Gln) (Ala79Val) (Intron4; InsTAC) (Tyr115Cys) (Thr116Asn) (Ile143Thr) (Met146Leu) (Met146Val) (Met146Leu) (Met146Ile) (InsFI) (His163Arg) (Phe177Leu) (Phe177Ser) (Ser178Pro) (Gly206Ser) (Gly206Ala) (Gly209Glu) (Ile213Leu) (Gln222Arg) (Ala231Thr) (Met233Leu) (Leu235Pro) (Val261Phe) (Thr274Arg) (Δ9) (InsR352) (Thr354Ile) (Arg358Gln) (Ser365Tyr) (Gly394Val) (Leu418Phe) (Ala431Glu) (Ala434Cys) (Leu435Phe) (Ile439Val)

ID: 112